ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1656G>T (p.Gln552His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002761349 SCV003023964 uncertain significance Peroxisome biogenesis disorder 2B 2022-03-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PEX5-related conditions. This variant is present in population databases (rs752121156, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 552 of the PEX5 protein (p.Gln552His). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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